In five families with mosaic variegated aneuploidy, including two with embryonal rhabdomyosarcoma, truncating and missense mutations of BUB1B, which encodes BUBR1, a key protein in the mitotic spindle checkpoint, have been identified. (15475955)

These data are the first to relate germline mutations in a spindle checkpoint gene with a human disorder and strongly support a causal link between aneuploidy and cancer development. (15475955).